A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11926



Internal ID15835661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49591193..49592206hg38UCSC Ensembl
Outerchr4:49589847..49607191hg38UCSC Ensembl
Innerchr4:49593210..49594223hg19UCSC Ensembl
Outerchr4:49591864..49609208hg19UCSC Ensembl
Innerchr4:49287967..49288980hg18UCSC Ensembl
Outerchr4:49286621..49303965hg18UCSC Ensembl
Innerchr4:49434138..49435151hg17UCSC Ensembl
Outerchr4:49432792..49450136hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3817345
hg1917345
hg1817345
hg1717345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10491
Supporting Variants
SamplesNA18552
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv11926
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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